view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTL9_chr19_8692400_8703795 | 8699305 | GC | G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00597.hp1 others(70): Show |
a0001a0009 | a0001c0001a0001c0013a0009c0018 | a0001c0001t0001a0001c0013t0001a0009c0018t0001 | a0001c0001t0001g0000 a0001c0013t0001g0000 a0009c0018t0001g0000 |
73 | 356 | 0.2051 | -1 | c.-60 others(5): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 511 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40737992 | GA | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(190): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0019 others(64): Show |
193 | 426 | 0.4531 | -1 | c.*44 others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 2868 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40743234 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(319): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(41): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0019 others(113): Show |
322 | 426 | 0.7559 | -1 | c.719 others(8): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40748984 | CT | C | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG02647.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(8): Show | a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0005g0120 others(11): Show |
16 | 426 | 0.0376 | -1 | c.323 others(8): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40750456 | GA | G | 5_prime_UTR_variant | MODIFIER | HG00609.hp1 HG02559.hp2 HG04204.hp1 others(8): Show |
a0001 | a0001c0003 | a0001c0003t0010a0001c0003t0023 | a0001c0003t0010g0013 a0001c0003t0010g0070 a0001c0003t0010g0071 others(2): Show |
11 | 426 | 0.0258 | -1 | c.-65 others(5): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 1/6 | 654 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40751661 | CT | C | upstream_gene_variant | MODIFIER | HG02486.hp2 HG03098.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0037 | a0001c0001t0028g0112 a0001c0001t0028g0121 a0001c0001t0037g0122 |
3 | 426 | 0.0070 | -1 | c.-18 others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 1185 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40752579 | CA | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00597.hp2 others(82): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0089 others(31): Show |
85 | 426 | 0.1995 | -1 | c.-27 others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 2103 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40752756 | GA | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(325): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(41): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0019 others(118): Show |
328 | 426 | 0.7700 | -1 | c.-29 others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 2280 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40753384 | GT | G | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00639.hp1 others(59): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0098 others(27): Show |
62 | 426 | 0.1455 | -1 | c.-35 others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 2908 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40753778 | TG | T | upstream_gene_variant | MODIFIER | HG01123.hp1 HG02257.hp1 HG02809.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0034a0001c0001t0044 | a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0043 others(3): Show |
9 | 426 | 0.0211 | -1 | c.-39 others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 3302 | chr19 | TogoVar | |||||||
ACTMAP_chr19_40735861_40755477 | 40755257 | CT | C | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01168.hp1 HG01169.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0035 others(7): Show |
13 | 426 | 0.0305 | -1 | c.-54 others(6): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 4781 | chr19 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68869420 | CT | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp2 others(77): Show |
a0001a0002 | a0001c0001a0001c0018a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 others(76): Show |
80 | 284 | 0.2817 | -1 | c.*54 others(6): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 4707 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68874486 | GA | G | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(67): Show |
a0001a0003a0004 | a0001c0002a0001c0004a0001c0012others(3): Show | a0001c0002t0003a0001c0002t0004a0001c0004t0004others(4): Show | a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0003g0131 others(67): Show |
70 | 284 | 0.2465 | -1 | c.*37 others(5): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 22/22 | 372 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68879708 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00642.hp1 others(34): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0152 a0001c0001t0001g0186 a0001c0001t0001g0195 others(33): Show |
37 | 284 | 0.1303 | -1 | c.228 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 18/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68886792 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(166): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 others(165): Show |
169 | 284 | 0.5951 | -1 | c.123 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 11/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68887380 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(147): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0143 a0001c0001t0001g0159 a0001c0001t0001g0160 others(147): Show |
150 | 284 | 0.5282 | -1 | c.123 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 11/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68889676 | AG | A | intron_variant | MODIFIER | NA18946.hp2 NA18949.hp2 NA18989.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0237 a0001c0001t0002g0020 a0001c0001t0002g0028 others(1): Show |
4 | 284 | 0.0141 | -1 | c.123 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 11/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68894662 | GC | G | intron_variant | MODIFIER | HG01255.hp2 HG01943.hp1 HG02486.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0182 a0001c0001t0001g0214 a0001c0001t0001g0265 others(9): Show |
12 | 284 | 0.0423 | -1 | c.763 others(8): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 8/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68901188 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(108): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(12): Show | a0001c0001t0001g0139 a0001c0001t0001g0151 a0001c0001t0001g0152 others(108): Show |
111 | 284 | 0.3909 | -1 | c.762 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 8/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68901207 | GT | G | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp2 HG01361.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 others(31): Show |
34 | 284 | 0.1197 | -1 | c.762 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 8/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68901248 | TG | T | intron_variant | MODIFIER | HG00741.hp1 HG02486.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0003a0001c0003t0001 | a0001c0001t0001g0224 a0001c0002t0003g0188 a0001c0003t0001g0184 |
3 | 284 | 0.0106 | -1 | c.762 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 8/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68901249 | GT | G | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp2 HG02280.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0201 others(6): Show |
10 | 284 | 0.0352 | -1 | c.762 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 8/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68903536 | CA | C | intron_variant | MODIFIER | HG00733.hp1 HG01106.hp1 HG01243.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(4): Show | a0001c0001t0001g0139 a0001c0001t0001g0165 a0001c0001t0001g0166 others(27): Show |
30 | 284 | 0.1056 | -1 | c.677 others(8): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 7/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68905229 | TG | T | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01361.hp1 others(23): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0147 others(23): Show |
26 | 284 | 0.0916 | -1 | c.595 others(8): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 6/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68913650 | AG | A | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0138 a0001c0001t0001g0207 a0001c0001t0001g0209 others(3): Show |
6 | 284 | 0.0211 | -1 | c.341 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 3/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68916735 | GA | G | intron_variant | MODIFIER | HG01496.hp1 HG02145.hp1 HG02622.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0198 a0001c0001t0001g0228 a0001c0001t0001g0268 others(6): Show |
9 | 284 | 0.0317 | -1 | c.340 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 3/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68924380 | AG | A | intron_variant | MODIFIER | HG02280.hp1 HG02559.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0152 a0001c0001t0001g0262 a0001c0001t0002g0025 |
3 | 284 | 0.0106 | -1 | c.220 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 2/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68925318 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00738.hp1 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0147 others(50): Show |
53 | 284 | 0.1866 | -1 | c.220 others(8): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 2/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68926445 | TG | T | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0201 a0001c0001t0002g0001 |
3 | 284 | 0.0106 | -1 | c.106 others(8): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68932513 | CT | C | intron_variant | MODIFIER | HG00280.hp2 HG01099.hp1 HG01175.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(3): Show | a0001c0001t0001g0143 a0001c0001t0001g0178 a0001c0001t0001g0182 others(40): Show |
43 | 284 | 0.1514 | -1 | c.106 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68933980 | GA | G | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01167.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0147 others(29): Show |
32 | 284 | 0.1127 | -1 | c.106 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68935387 | AT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(74): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(6): Show | a0001c0001t0001g0138 a0001c0001t0001g0159 a0001c0001t0001g0160 others(73): Show |
77 | 284 | 0.2711 | -1 | c.106 others(9): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68936500 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00558.hp2 others(118): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 others(117): Show |
121 | 284 | 0.4261 | -1 | c.106 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68940677 | TA | T | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG01074.hp2 others(49): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(5): Show | a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0169 others(49): Show |
52 | 284 | 0.1831 | -1 | c.106 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68942378 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(191): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 others(190): Show |
194 | 284 | 0.6831 | -1 | c.106 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68945270 | GA | G | intron_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01192.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0169 a0001c0001t0001g0186 a0001c0001t0001g0202 others(14): Show |
17 | 284 | 0.0599 | -1 | c.106 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68948752 | AG | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00642.hp2 others(79): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 others(79): Show |
82 | 284 | 0.2887 | -1 | c.106 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68953885 | CA | C | intron_variant | MODIFIER | HG00280.hp2 HG01257.hp1 HG02109.hp1 others(15): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(4): Show | a0001c0001t0001g0152 a0001c0001t0001g0185 a0001c0001t0001g0204 others(15): Show |
18 | 284 | 0.0634 | -1 | c.105 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68960748 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(119): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0148 others(119): Show |
122 | 284 | 0.4296 | -1 | c.105 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68966597 | TC | T | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02056.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 others(11): Show |
14 | 284 | 0.0493 | -1 | c.105 others(10): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236682522 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(108): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0018 a0001c0001t0001g0103 a0001c0001t0001g0114 others(108): Show |
111 | 344 | 0.3227 | -1 | c.-41 others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 3976 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236683947 | GT | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(328): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(328): Show |
331 | 344 | 0.9622 | -1 | c.-27 others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2551 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236684111 | TA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(39): Show | a0001c0001t0001g0103 a0001c0001t0001g0145 a0001c0001t0001g0146 others(216): Show |
219 | 344 | 0.6366 | -1 | c.-25 others(6): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 2387 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236690935 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(205): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(53): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(205): Show |
208 | 344 | 0.6047 | -1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236694203 | AT | A | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02280.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0018others(3): Show | a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0078 others(7): Show |
10 | 344 | 0.0291 | -1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236695212 | CA | C | intron_variant | MODIFIER | HG01106.hp2 HG01168.hp2 HG01169.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0015others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0033 others(10): Show |
13 | 344 | 0.0378 | -1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236695572 | CT | C | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01433.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0006a0001c0003t0001a0001c0003t0006others(4): Show | a0001c0001t0006g0135 a0001c0003t0001g0129 a0001c0003t0001g0133 others(13): Show |
16 | 344 | 0.0465 | -1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236696317 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(276): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0006 a0001c0001t0001g0041 a0001c0001t0001g0103 others(276): Show |
279 | 344 | 0.8111 | -1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236696666 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(116): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0006 a0001c0001t0001g0041 a0001c0001t0001g0114 others(116): Show |
119 | 344 | 0.3459 | -1 | c.126 others(9): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236697760 | CT | C | intron_variant | MODIFIER | HG01071.hp1 HG02132.hp2 HG02735.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(2): Show | a0001c0001t0001g0317 a0001c0001t0004g0078 a0001c0001t0014g0084 others(4): Show |
7 | 344 | 0.0204 | -1 | c.126 others(10): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |